Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_assertion wasGeneratedBy ECO_0000203 NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_assertion wasDerivedFrom befree-20140225 NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_assertion SIO_000772 14561704 NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_assertion evidence source_evidence_literature NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_assertion description "[We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP727258.RA7dz0X-8EoJ7MChE7mh9FCZ-TR_b_yhNTv-t0cWctGRc130_provenance.